ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.1335C>T (p.Asn445=) (rs61731179)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037441 SCV000061099 benign not specified 2011-12-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037441 SCV000308962 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251577 SCV000318178 benign Cardiovascular phenotype 2015-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000290401 SCV000385753 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340666 SCV000385754 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376886 SCV000385755 likely benign Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000037441 SCV000515367 benign not specified 2016-09-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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